The Euro-ASA registry demonstrated low peri-procedural and long-term mortality after ASA. This intervention provided durable relief of symptoms and a reduction of LV outflow tract obstruction in selected and highly symptomatic patients with obstructive HCM. As the post-procedural obstruction seems to be associated with both worse functional status and prognosis, optimal therapy should be focused on the elimination of LV outflow tract gradient.

This study suggests that in patients with HOCM and important symptoms who underwent ASA, long-term survival after the procedure did not differ significantly from that of the general population.

Echo-guided alcohol septal ablation (ASA) is an alternative treatment for highly symptomatic patients with obstructive hypertrophic cardiomyopathy (HOCM). Previous reports suggest that a low dose of alcohol (1.5-2 ml) is as effective as the classic dose (2-4 ml) used in the past. Because a larger infarct might be associated with a potential long-term risk, in this pilot study we wanted to determine whether an ultra-low dose of alcohol (1 ml) would be effective in the mid-term follow-up. Seventy patients (55+/-13 years, range 24-81 years, septum thickness <31 mm) with a highly symptomatic HOCM receiving maximum medical therapy were enrolled. Thirty-five consecutive patients (group I) have been treated with an ultra-low alcohol dose (1.0+/-0.1 ml) and compared with a control group II of 35 patients treated by the same medical team using the classic alcohol dose (2.5+/-0.8 ml) in the past. At 6-month follow-up, both groups of patients improved in dyspnea (2.9+/-0.6 vs 1.5+/-0.5 New York Heart Association [NYHA] class for group I; P<0.01, and 2.5+/-0.7 vs 1.4+/-0.4 NYHA class for group II; P<0.01) and angina (2.1+/-1 vs 0.6+/-0.8 Canadian Cardiovascular Society [CCS] class for group I; P<0.01, and 2.1+/-0.9 vs 0.7+/-0.7 CCS class for group II; P<0.01). There was a significant decrease in left ventricular (LV) ejection fraction (P<0.05), septum thickness (P<0.01), and LV outflow gradient (P<0.01) in both groups of patients. However, there was no significant difference with regard to the extent of symptomatic or echocardiographic changes and complications between both groups. These results suggest that the ultra-low dose of alcohol (1 ml) is still effective in the treatment of the majority of HOCM patients without extreme septum hypertrophy (<31 mm).

No abstract

Introduction The yield of genetic testing in hypertrophic cardiomyopathy (HCM) is variable. The Mayo HCM Genotype Predictor score (Mayo Score) provides the pre-test probability of a positive HCM genetic test. In the original cohort of Mayo Score patients, only 9 HCM-associated myofilament genes were evaluated. The aim of this study was to validate the Mayo Score in the national HCM cohort and assess the yield of genetic testing using next generation sequencing (NGS) evaluating up to 229 genes. Material and methods We included 336 consecutive unrelated HCM patients (41% women, mean age: 53 ±15 years). We performed NGS-based genomic testing with classification of identified variants according to American College of Medical Genetics and Genomics guidelines. NGS findings were compared with the Mayo Score (ranging from –1 to 5) based on clinical and echocardiographic variables. Results We identified 72 variants classified as pathogenic or likely pathogenic in 70 (21%) HCM patients. One patient with the highest Mayo Score of 5 had a pathogenic mutation (100% yield). Patients with a Mayo Score of 4 had a pathogenic mutation in 71% of cases. Patients with a Mayo Score of 3 or 2 had a pathogenic mutation in 50 and 35% of cases, respectively. The yield of genetic testing in patients with a Mayo Score of –1 to 1 was low (6–21%). Conclusions The overall yield of genetic testing using NGS evaluating up to 229 genes was low. The yield of genetic testing was consistently predicted with Mayo Score values.